gene/point mutations Flashcards
what are the 3 types of mutations?
- gene/point
- chromosome/ block
define gene/point mutations
- localized changes in the base sequence of a DNA strand caused by a mutagen or an error during replication
what are the three types of mutations within gene mutations?
1) substitution
2) insertion
3) deletion
what is substitution in gene mutations?
one nucleotide is replaced by a different nucleotide resulting in: - synonymous - missense - nonsense = sickle cell disease
what is the insertion in gene mutations?
addition of one or more nucleotides base pairs into a DNA sequence
results in:
- frameshift
what is a deletion in gene mutations?
a nucleotide is removed from the DNA strand
= cystic fibrosis
results in:
- frameshift
define synonymous
more than one triplet can code for same amino acid = same amino acid + no effect on the protein produced
define missense
one base change = one amino acid difference in the protein produced
define nonsense
one base change = stop codon occurring prematurely = halts translation= incomplete protein that is likely to have no biological use
define frameshift
every following codon is affected as the frame of reference has moved = leading to translation halting and protein failing